Abstract
Previous large-scale genetic studies identified single nucleotide polymorphisms (SNPs) of the TM6SF2 and MBOAT7 genes as risk factors for alcoholic liver cirrhosis and non-alcoholic fatty liver disease. In this study, we tried to evaluate the association between TM6SF2 variant rs58542926 and MBOAT7 variant rs641738 and the risk of hepatic fibrosis or liver cirrhosis of different etiology. In parallel, we also aimed to evaluate whether these two SNPs modify the effects of the PNPLA3 rs738409 risk variant for the development of hepatic fibrosis and liver cirrhosis. The study was conducted at the Department of Gastroenterology, Lithuanian University of Health Sciences Hospital, and included 334 patients with liver cirrhosis, 128 patients with liver fibrosis, and 550 controls. SNPs were genotyped by quantitative PCR, using TaqMan allelic discrimination assays. Overall, TM6SF2 rs58542926 as well as MBOAT7 rs641738 were not linked to hepatic fibrosis, alcohol or hepatitis C virus induced liver cirrhosis in an Eastern European population. These genetic variations also did not mediate the effect of PNPLA3 rs738409 SNP for liver developing liver fibrosis or liver cirrhosis.
Highlights
Liver cirrhosis is one of the dominant causes of global disease burden and is associated with life threatening complications [1]
We aimed to evaluate the associations between transmembrane 6 superfamily member 2 (TM6SF2) rs58542926 and membrane-bound O-acyltransferase domain-containing protein 7 (MBOAT7) rs641738 genes polymorphisms and the risk of hepatic fibrosis and liver cirrhosis
We ran combined analysis to assess whether TM6SF2 and MBOAT7 single nucleotide polymorphisms (SNPs) mediate the risk of liver fibrosis or liver cirrhosis in the presence of certain patatin-like phospholipase domain containing 3 (PNPLA3) genotypes
Summary
Liver cirrhosis is one of the dominant causes of global disease burden and is associated with life threatening complications [1]. Transmembrane 6 superfamily member 2 (TM6SF2) and membrane-bound O-acyltransferase domain-containing protein 7 (MBOAT7) gene polymorphisms have been identified as risk factors for alcoholic liver cirrhosis [12]. TM6SF2 variant rs58542926 has been associated with an increased risk of developing advanced hepatic fibrosis and cirrhosis in patients with non-alcoholic fatty liver disease (NAFLD) [13]. The MBOAT7 polymorphism rs641738 was associated with the severity of liver fibrosis in individuals with chronic hepatitis C virus infection [14] and NAFLD [15]. MBOAT7 rs641738 SNP was reported as an independent predictor of severe liver steatosis in patients with chronic hepatitis C [16]
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